Cerebral arteriovenous malformations (CAVMs) are abnormal vessels located on the surface of the brain or within the cerebral parenchyma, causing abnormal communication between the arterial and venous networks, without the interposition of the capillary bed. The main risk associated with these malformations is rupture, which causes intracranial bleeding and can lead to serious sequelae or even death. CAVMs (except those of clearly identified genetic origin \[\< 5%\], such as mutations associated with Rendu-Osler disease) have long been considered to be of non-genetic origin. However, somatic genetic mutations that activate the RAS/RAF/MEK/ERK (MAPK) signalling pathway have recently been identified in surgical specimens of cAVMs. Furthermore, targeted inhibition of this pathway is effective in treating these malformations in animals and appears to be effective in extracranial arteriovenous malformations, particularly superficial ones.
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Evaluate genetic mutations identified by liquid biopsies on the drainage vein of AVMs.
Timeframe: Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate
Assessment of the prevalence of each mutation identified by liquid biopsies on the drainage vein of AVMs
Timeframe: Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate